Advances in Breast Cancer Care

Recent advancements in breast cancer research are enhancing both diagnosis and treatment, offering hope for more personalised and effective approaches. Key breakthroughs include the use of biomarkers such as BRCA and HER2 mutations, which provide critical insights into genetic predispositions and guide targeted therapies. Tumour-infiltrating lymphocytes (TILs) and genetic markers have emerged as important predictors of therapeutic response, side effects, and overall mortality. Metabolomics and epigenetic factors also play a role, revealing how the environment influences gene expression, impacting cancer progression and treatment outcomes.

The incorporation of next-generation sequencing (NGS) allows for more accurate diagnosis and recurrence risk assessments, enabling clinicians to tailor additional therapies. Pharmacogenetics is also improving, identifying genetic factors that predict toxicities associated with endocrine therapy. This ensures more personalised, effective treatments with fewer side effects. Additionally, long non-coding RNAs (lncRNAs) and microRNAs (miRNAs) are promising diagnostic markers, shedding light on cancer progression and offering new avenues for early detection.

Emerging technologies, such as ultrasound paired with clinicopathological data, enhance diagnosis accuracy, particularly in high-risk groups such as young women. The microbiome's role in cancer and the potential of exosomes as diagnostic tools are being actively explored, while tumour DNA in metastatic breast cancer offers a new frontier for monitoring disease progression and survival outcomes. As breast cancer research advances, gene therapy, immunotherapy strategies targeting regulatory T cells (Tregs), and novel treatments based on post-translational modifications of histological biomarkers are shaping the future of breast cancer care. With continued innovation, these breakthroughs hold promise for improving survival rates and quality of life for patients.

Recent key publications

1) Triple-Negative Breast Cancer EVs Modulate Growth and Migration of Normal Epithelial Lung Cells. Int J Mol Sci 2024; 25. Leone I, Santoro J, Soricelli A et al.

Link to full article: https://www.ncbi.nlm.nih.gov/pubmed/?term=38892050

Exosomes have emerged as promising biomarkers in cancer diagnosis and prognosis, given their role in cellular communication and their diverse molecular cargo, including nucleic acids, proteins, and lipids. These small extracellular vesicles provide valuable insights into tumour characteristics and progression. Despite their potential, challenges such as standardisation in isolation and clinical scalability remain. This article delves into the latest technological advancements and integrative approaches that enhance the diagnostic capabilities of exosomes, offering new perspectives on overcoming these obstacles and maximising their clinical utility.

2) LncRNAs involvement in pathogenesis of immune-related disease via regulation of T regulatory cells, an updated review. Cytokine 2024; 179:156585. Khalilollah S, Kalantari Soltanieh S, Obaid Saleh R et al.

Link to full article: https://www.ncbi.nlm.nih.gov/pubmed/?term=38579428

Long non-coding RNAs (lncRNAs) are seen as crucial regulators of immune cell differentiation and function, particularly in relation to regulatory T cells (Tregs) and their role in autoimmune diseases, cancer, and other immune-related conditions. These lncRNAs influence the balance between pro-inflammatory Th17 cells and immunosuppressive Tregs, which is critical for maintaining immune homeostasis. Understanding the molecular mechanisms of lncRNA-mediated Treg differentiation could provide insights into novel therapeutic strategies for a range of diseases where immune dysregulation is a central feature. This article offers an in-depth review of the current knowledge on lncRNAs, focusing on their impact on Treg differentiation and potential clinical applications.

3) Navigating precision: the crucial role of next-generation sequencing recurrence risk assessment in tailoring adjuvant therapy for hormone receptor-positive, human epidermal growth factor Receptor2-negative early breast cancer. Cancer Biol Ther 2024; 25:2405060. Xu Y, Qi Y, Lu Z et al.

Link to full article: https://www.ncbi.nlm.nih.gov/pubmed/?term=39304993

Advancements in precision medicine have significantly impacted the management of hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) early-stage breast cancer. This article explores the critical role of next-generation sequencing (NGS) in assessing recurrence risk, which enables the customisation of adjuvant therapy for patients. By integrating genomic data and clinical parameters, NGS-based tools such as Oncotype DX and MammaPrint help to refine treatment strategies, potentially minimising overtreatment and associated side effects. The comprehensive review of current genomic assays and their implications in clinical decision-making underscores the necessity of personalised treatment approaches to optimise patient outcomes.

4) Comprehensive investigation of long non-coding RNA HOTAIR polymorphisms and cancer risk: a current meta-analysis encompassing 96,458 participants. Sci Rep 2024; 14:22670. Krishna BM, Garg P, Ramisetty S et al.

Link to full article: https://www.ncbi.nlm.nih.gov/pubmed/?term=39349529

Long non-coding RNAs (lncRNAs), particularly HOTAIR polymorphisms, have gained attention for their pivotal role in cancer development and progression. This article presents a comprehensive meta-analysis investigating the association between specific HOTAIR polymorphisms and cancer risk across various populations and cancer types. By analysing data from 48 studies involving over 96,000 participants, significant correlations between HOTAIR rs1899663 and rs4759314 polymorphisms and increased cancer susceptibility were identified, especially in Asian populations and gynaecological cancers. These findings provide valuable insights into the potential of HOTAIR polymorphisms as biomarkers for cancer diagnosis and risk assessment, offering new directions for personalised cancer therapies.

5) Circulating Tumor DNA and Survival in Metastatic Breast Cancer: A Systematic Review and Meta-Analysis. JAMA Netw Open 2024; 7:e2431722. Dickinson K, Sharma A, Agnihotram RV et al.

Link to full article: https://www.ncbi.nlm.nih.gov/pubmed/?term=39235812

Circulating tumour DNA (ctDNA) is perceived as a non-invasive?biomarker for real-time monitoring of metastatic breast cancer (MBC). This systematic review and meta-analysis examines the association between ctDNA alterations and survival outcomes in patients with MBC. By analysing data from 37 studies involving 4264 patients, the study identifies specific genomic alterations, particularly in TP53 and ESR1, that are significantly associated with worse overall, progression-free, and disease-free survival. These findings highlight the potential of ctDNA as a prognostic biomarker, offering valuable insights for improving clinical management and guiding therapeutic strategies in MBC.

6) Exosomes in cancer diagnosis based on the Latest Evidence: Where are We? Int Immunopharmacol 2024; 142:113133. Jin K, Lan H, Han Y, Qian J.

Link to full article: https://www.ncbi.nlm.nih.gov/pubmed/?term=39278058

Exosomes are potential promising biomarkers for cancer diagnosis due to their role in intercellular communication and their diverse molecular cargo, including nucleic acids, proteins, and lipids. These small extracellular vesicles reflect the molecular characteristics of their cell of origin, offering a non-invasive method for early detection, classification, and monitoring of cancer. However, challenges such as standardisation and clinical scalability remain. This article provides an in-depth review of exosome biology, recent technological advancements, and integrative approaches, highlighting their potential to revolutionise cancer diagnostics and patient care.